A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003435



Internal ID7068541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:132824538..132831492hg38UCSC Ensembl
Outerchr5:132160230..132167184hg19UCSC Ensembl
Outerchr5:132188129..132195083hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg386955
hg196955
hg186955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564317
SamplesHuRef
Known GenesSHROOM1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003435
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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